ArticleScientific reports2022
HLA class II variants defined by next generation sequencing are associated with sarcoidosis in Korean patients.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 14 citations in OpenAlex.
- Overlap syndrome between sarcoidosis and Sjögren's disease presenting as hypopituitarism: case report and review of literature.Endocrine journal · 2026Review
- Association of Genetic Polymorphisms with Ischemic Sudden Cardiac Death: A Comparative Case-Control Study in North-Western Transylvania (Romania).Biomedicines · 2026Article
- Article
- Sarcoidosis in the Genomic Era: From Genetic Drivers to Tailored Therapies.Current allergy and asthma reports · 2025Review
- HLA Polymorphisms and Clinical Manifestations in IgA Vasculitis.International journal of molecular sciences · 2024Article
- Genome-wide association study identifies multiple HLA loci for sarcoidosis susceptibility.Human molecular genetics · 2023Article
- Association between sarcoidosis and HLA polymorphisms in a Czech population from Central Europe: focus on a relationship with clinical outcome and treatment.Frontiers in medicine · 2023Article
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Authors and funding
6 authors at 5 institutions in 2 countries.
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Abstract
Polymorphic genes with immune functions, namely those of the human leukocyte antigen (HLA) system, have been implicated in sarcoidosis pathogenesis. As HLA polymorphisms in sarcoidosis have not been yet investigated in the Korean population, we used next-generation sequencing (NGS), allowing detailed characterization of HLA alleles to investigate the role of HLA variation in Korean sarcoidosis patients. We enrolled 103 patients diagnosed by the ATS/ERS/WASOG guidelines at Asan Medical Centre, Seoul, Korea. Among those, genotyping of 7 HLA loci (HLA-A, -B, -C, -DQA1, -DQB1, -DRB1, -DPB1) was performed using Omixon Holotype™ kit and HLATwin software™. HLA allele frequencies were compared with frequency data on healthy Koreans from the allelic frequency databases, and 4-digit characteristics of HLA genotyping were used. Associations were assessed by two-tailed Fischer's exact test with correction for multiple comparisons. Variants previously associated with sarcoidosis risk (HLA-C*03:04, HLA-DRB1*12:01, HLA-DRB1*14:54) and a known protective variant HLA-DPB1*04:01, were associated with sarcoidosis in Koreans. Further, we suggest new HLA variants associated with sarcoidosis risk (e.g., HLA-DQA1*05:08) and novel protective variants HLA-DQB1*03:02 and HLA-DQA1*01:02 in Koreans. This first study of HLA variation in Korean patients with sarcoidosis by precise genotyping methodology reports data that could serve future meta-analyses on HLA variation's role in sarcoidosis.
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